TFAP2A and Microphthalmia: Association Evidence

Gene-Disorder Association · Article

Gene

TFAP2A

Transcription Factor AP-2 Alpha

Disorder

First reported 1950

Key publication · disorder [Some mutations affecting the eyes, collected as examples in the canton of Neuchatel and the Jura Bernois (congenital aniridia, universal albinism, congenital anophthalmos, total achromatopsia, oligophrenia associated with keratoconus, with ectopy of the crystalline, with congenital cataract and with atrophy of the optic nerve)].Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften · 1950

Manually curated

Association Review

In brief

The association between TFAP2A (Transcription Factor AP-2 Alpha) and Microphthalmia is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2

Clinical variants 1

Symptoms 0

Compounds 0

Trials 0

Publications 0

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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TFAP2A

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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Microphthalmia

The disorder

7 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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ClinVar and variant evidence

Genetic basis

1 clinical variant

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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Provenance

References & sources

3 references

Every source and publication cited across this dossier, as one numbered reference list.

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